Incidental Mutation 'R6256:Mepe'
ID |
506105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mepe
|
Ensembl Gene |
ENSMUSG00000053863 |
Gene Name |
matrix extracellular phosphoglycoprotein with ASARM motif (bone) |
Synonyms |
OF45 |
MMRRC Submission |
044373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
R6256 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104473195-104486477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104484940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 27
(M27L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066207]
|
AlphaFold |
Q8K4L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066207
AA Change: M27L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000065200 Gene: ENSMUSG00000053863 AA Change: M27L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Osteoregulin
|
29 |
192 |
4.2e-76 |
PFAM |
low complexity region
|
257 |
272 |
N/A |
INTRINSIC |
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
99% (74/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
Other mutations in Mepe |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00335:Mepe
|
APN |
5 |
104,485,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01896:Mepe
|
APN |
5 |
104,486,135 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01997:Mepe
|
APN |
5 |
104,485,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02311:Mepe
|
APN |
5 |
104,485,571 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02586:Mepe
|
APN |
5 |
104,485,316 (GRCm39) |
missense |
probably benign |
0.39 |
F6893:Mepe
|
UTSW |
5 |
104,485,242 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1187:Mepe
|
UTSW |
5 |
104,486,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R1218:Mepe
|
UTSW |
5 |
104,474,939 (GRCm39) |
missense |
probably benign |
|
R1633:Mepe
|
UTSW |
5 |
104,485,540 (GRCm39) |
missense |
probably benign |
0.25 |
R2024:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2026:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2027:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2393:Mepe
|
UTSW |
5 |
104,485,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2920:Mepe
|
UTSW |
5 |
104,486,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R3040:Mepe
|
UTSW |
5 |
104,485,988 (GRCm39) |
missense |
probably damaging |
0.99 |
R3716:Mepe
|
UTSW |
5 |
104,485,294 (GRCm39) |
missense |
probably benign |
0.25 |
R3973:Mepe
|
UTSW |
5 |
104,484,944 (GRCm39) |
missense |
probably benign |
|
R3976:Mepe
|
UTSW |
5 |
104,484,944 (GRCm39) |
missense |
probably benign |
|
R4894:Mepe
|
UTSW |
5 |
104,473,268 (GRCm39) |
missense |
probably damaging |
0.98 |
R5556:Mepe
|
UTSW |
5 |
104,486,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R6788:Mepe
|
UTSW |
5 |
104,486,074 (GRCm39) |
nonsense |
probably null |
|
R7361:Mepe
|
UTSW |
5 |
104,485,009 (GRCm39) |
missense |
probably benign |
0.41 |
R8431:Mepe
|
UTSW |
5 |
104,486,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8679:Mepe
|
UTSW |
5 |
104,485,754 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8745:Mepe
|
UTSW |
5 |
104,485,525 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8817:Mepe
|
UTSW |
5 |
104,485,151 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATCCCTATTGAGTTGTAGAC -3'
(R):5'- TGATATTTCTGAGGAGGGCAGC -3'
Sequencing Primer
(F):5'- CATCCCTATTGAGTTGTAGACTTTAC -3'
(R):5'- AGCACCATACCTGTCCTGG -3'
|
Posted On |
2018-02-28 |